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  3. CTPS1
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Combined Immunodeficiency

Gene: CTPS1

Green List (high evidence)
CTPS1 (CTP synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000171793
EnsemblGeneIds (GRCh37): ENSG00000171793
OMIM: 123860, Gene2Phenotype
CTPS1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least five families reported.
Created: 5 Apr 2020, 4:18 a.m. | Last Modified: 5 Apr 2020, 4:18 a.m.
Panel Version: 0.94

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma

Publications

Created: 5 Apr 2020, 4:18 a.m.
Last Modified: 5 Apr 2020, 4:18 a.m.
Panel version: 0.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 24, MIM# 615897
  • Recurrent/chronic bacterial and viral infections (EBV, VZV)
  • EBV lymphoproliferation
  • B-cell non-Hodgkin lymphoma
OMIM
123860
Clinvar variants
Variants in CTPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctps1 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma

5 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTPS1 were set to

5 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTPS1 was added gene: CTPS1 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CTPS1 was set to Unknown